A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071284



Internal ID18972511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31315980..31316270hg38UCSC Ensembl
chr16:31327301..31327591hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766713
SamplesKWP1
Known GenesITGAM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071284
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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